Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.R231H

BMP6

169 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 61–362UCSCTGF-beta propeptide
TGF_betaaa 411–512UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 6

HGNC Previous Symbol

VGR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001718.6
p.R231H
c.692G>A
Surrounding Variants
1 paper
NM_001718.6
p.R231_R233del0
c.691_699del9
1 paper
NM_001718.6
p.Q232P
c.695A>C
1 paper
NM_001718.6
p.Y224Y
c.672C>T
1 paper
NM_001718.6
p.F240L
c.718T>C
1 paper
NM_001718.6
p.F240L
c.720C>A
1 paper
NM_001718.6
p.F240L
c.720C>G
1 paper
NM_001718.6
p.V251A
c.752T>C
1 paper
NM_001718.6
p.T252M
c.755C>T
1 paper
NM_001718.6
p.E255insFs
c.764_765insA
1 paper
NM_001718.6
p.E255fs
c.763_764fs
1 paper
NM_001718.6
p.F256delFs
c.768delC
10 papers
NM_001718.6
p.R257H
c.770G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."